research Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
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30 / 1000+ resultsresearch A Human Vitamin D Receptor Mutation Causes Rickets and Impaired Th1/Th17 Responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research Hereditary Vitamin D-Resistant Rickets in Lebanese Patients: The p.R391S and p.H397P Variants Have Different Phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Experience of Intravenous Calcium Treatment and Long-Term Responses to Treatment in a Patient with Hereditary Vitamin D-Resistant Rickets Resulting from a Novel Mutation
Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
research Characterization of Type II Rickets Model Rats to Reveal Functions of Vitamin D and Vitamin D Receptor
The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
research Ligand-Independent Actions of Vitamin D Receptor
The vitamin D receptor helps maintain hair and bone health even without binding vitamin D.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets (HVDRR): Clinical Heterogeneity and Long-Term Efficacious Management of Eight Patients from Four Unrelated Arab Families with a Loss of Function VDR Mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of Two Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Assessment of Vitamin D Receptors in Alopecia Areata and Androgenetic Alopecia
Low vitamin D receptor levels found in hair loss patients; topical vitamin D treatment suggested.
research Rare and Underappreciated Causes of Polycystic Ovarian Syndrome
Some lesser-known causes of PCOS include autoimmune issues, genetic mutations, and changes in the body's microbiome.
research Functional Analysis of VDR Gene Mutation R343H in a Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
research Vitamin D Receptor: New Assignments for an Already Busy Receptor
The vitamin D receptor is involved in multiple body functions beyond calcium regulation, including immune response and rapid reactions not related to gene activity.
research Minireview: Vitamin D Receptor: New Assignments for an Already Busy Receptor
The vitamin D receptor has many roles in the body beyond managing calcium, affecting the immune system, hair growth, muscles, fat, bone marrow, and cancer cells.
research Effect of a Transcriptionally Inactive or Absent Vitamin D Receptor on Beta-Cell Function and Glucose Homeostasis in Mice
Mice without active or present vitamin D receptors maintain normal blood sugar control and islet gene expression when calcium levels are normal.
research Gene Therapy for Alopecia in Type II Rickets Model Rats Using Vitamin D Receptor-Expressing Adenovirus Vector
Gene therapy helped rats with a specific type of rickets grow hair without severe inflammation.
research Vitamin D Receptor Gene Polymorphism in Chronic Telogen Effluvium: A Case-Control Study
Certain gene variations in the Vitamin D receptor may increase the risk of chronic hair loss.
research Vitamin D Receptor Gene Polymorphisms Taq-1 and Cdx-1 in Female Pattern Hair Loss
Certain gene variations in the Vitamin D Receptor are linked to higher risk of female hair loss.
research Clinical and Genetic Findings in a Chinese Family with VDR-Associated Hereditary Vitamin D-Resistant Rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research The Role of Vitamin D in Non-Scarring Alopecia
Low vitamin D might be linked to certain types of hair loss, and supplements could help, but more research is needed.
research Study of Vitamin D Deficiency in Patients With Alopecia Areata Attending a Dermatology Center in Iran
People with alopecia areata had lower vitamin D levels, but these levels didn't relate to many aspects of the condition.
research A Novel Point Mutation in the Ligand-Binding Domain of the Human Glucocorticoid Receptor Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus in Conferring Transactivational Activity
A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
research Non-Canonical Dimerization of the Androgen Receptor and Other Nuclear Receptors: Implications for Human Disease
Mutations in certain receptors can cause diseases and offer new treatment options.
research Histopathological Examination and Evaluation of Serum Vitamin D Levels in Alopecia: Is It Necessary?
Skin biopsies are recommended for confirming alopecia diagnosis due to variability in clinical assessments; the link between vitamin D levels and alopecia is unclear.
research Study of Gene Expression Alteration in Male Androgenetic Alopecia: Evidence of Predominant Molecular Signaling Pathways
Hair loss involves immune responses, inflammation, and disrupted signaling pathways.
research Chrousos Syndrome: From Molecular Pathogenesis to Therapeutic Management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research Androgen Receptors And Their Biology
Androgen receptors are key for development and health, affecting conditions like prostate cancer and male pattern baldness.
research Alopecia and Clinical Presentation of Endocrinopathies: Pathogenetic and Diagnostic Aspects
Hormonal imbalances can cause hair loss, and understanding them can help develop better treatments.
research Commonly Associated Disorders With Complete Scalp Alopecia in Early Childhood: A Review
Six genetic conditions are often linked to complete scalp hair loss in children.
research Glucocorticoid Receptor Mutants Demonstrate Increased Motility Inside the Nucleus of Living Cells: Time of Fluorescence Recovery After Photobleaching Is an Integrated Measure of Receptor Function
Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
research The Effect of Parathyroid Hormones on Hair Follicle Physiology: Implications for Treatment of Chemotherapy-Induced Alopecia
Parathyroid hormones are important for hair growth, but their use in treating hair loss from chemotherapy is still uncertain.